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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **11901 - 11925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2569	retinal drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:9997	peripartum cardiomyopathy Aliases: antepartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy	STAT3	6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081060	X-linked nephrogenic diabetes insipidus Aliases: nephrogenic diabetes insipidus type 1	AVPR2	554	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ADD1 ADD2 ADD3 AGAP1 AGAP5 AGAP9	116987 118 119 120 642517 729092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060889	prune belly syndrome Aliases: Eagle-Barret syndrome Obrisnksy syndrome abdominal muscle deficiency syndrome	CHRM3	1131	Homo sapiens (human)	Alliance of Genome Resources
DOID:12583	velocardiofacial syndrome Aliases: Shprintzen syndrome VCF-Velocardiofacial syndrome	CHRD CRKL EDNRA ESS2 PRICKLE1 UFD1	1399 144165 1909 7353 8220 8646	Homo sapiens (human)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	ABCC8 ABCC9 AGT AKAP12 AMIGO3 APOA1 APOE BDKRB1 BDKRB2 BDNF C3 CACNA1D CACNA1H CACNA1I CAPN1 CASP7 CAT CCL2 CCL5 CDKN1B CERS2 CNR2 CREB1 CYP11A1 CYP17A1 DBN1 FAS FGFR1 FTO FUBP1 GC GDNF GFRA1 GFRA3 GPX3 GRIN1 GRIN2B GSK3B HGF HMGB1 HRH3 HSD3B1 ICAM1 IL10 IL1RN IL6 IL6R JAK1 JAM3 KARS1 KCNC4 KCNJ11 LAMP2 LRP1 MAG MAP2 MC4R MMP9 MPZ MTOR NEFH NEFL NEFM NF1 NGFR NLGN2 NLGN3 NRG1 OPRL1 OPRM1 PCNA PCSK5 PDGFRA PDGFRB PLAT PLAU PMP22 PPARGC1A PTAFR QARS1 RANBP1 RANGAP1 REG3G RGMA SCN10A SERPINE1 SERPINF1 SLC17A8 SNW1 SOD1 TIMP3 TLR4 TNF TNFRSF1A TNFRSF1B	10060 1027 10891 11255 1269 130120 1385 1583 1586 1627 183 2260 22938 246213 2475 2638 2668 2674 2676 2878 2902 2904 2932 29956 3082 3084 3146 3283 335 3383 348 355 3557 3569 3570 3586 3716 3735 3749 3767 386724 3920 4035 4099 4133 4160 4318 4359 4741 4744 4747 4763 4804 4987 4988 5054 5111 5125 5156 5159 5176 5327 5328 5376 54413 56963 5724 57555 5859 5902 5905 623 624 627 6336 6347 6352 6647 6833 7078 7099 7124 7132 7133 718 776 79068 823 83700 840 847 8880 8911 8912 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ACSL1 ADAM10 ADIPOQ AMN ASAH2 ATP5F1B BAG3 CASR CCL2 COL15A1 COL18A1 CXCR4 DES DGAT1 DOC2B DTNA EGFR ELAC2 EP300 ERBB2 ERBB3 ERBB4 GOT1 HDAC3 HFE HRAS IFNG IGF1R ITGA7 JPH1 JPH4 JUND JUP KLK1 KRAS LDB3 LEMD2 LRP1 MIF MLYCD MMP2 MMP9 MYH15 MYH1 MYH7 NCAM1 NONO NOS1 NOS3 NRAS PDLIM5 PDLIM7 POMT1 PPARGC1A PPP3CA RAF1 RRAGC SDHA SGCD SGCG SGCZ SLC22A5 SLC31A1 SLC4A1 SOD2 SPARC SPARCL1 SPHK1 SPHK2 SRF TAB2 TNF TNNI3 TSHR UTS2R	102 10585 10611 10891 11155 1306 1317 137868 1674 1837 1956 2033 2064 2065 2066 2180 221496 22989 23118 23417 2805 2837 3077 3265 3458 3480 3679 3727 3728 3816 3845 4035 4282 4313 4318 4619 4625 4684 4841 4842 4846 4893 506 5530 56624 56704 56848 5894 60528 6347 6389 64121 6444 6445 6521 6584 6648 6678 6722 7124 7137 7253 7852 80781 81693 8404 8447 84502 846 8694 8841 8877 9260 9370 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	EHMT1	79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:11111	hydronephrosis	AGT HAVCR1 LCN2 TBXAS1	183 26762 3934 6916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ANXA7 APC BAX CA12 CHD4 CSF1R CTNNB1 CYP24A1 DAXX EEF2 FOSL2 FOXA1 HMGB1 KDM6A LOX MGMT MMP2 MMP9 MYD88 NOS2 PCSK5 PFAS PIK3CA PIK3R3 RAC1 RNASET2 SMC2 SRC SRSF4 SRSF5 SRSF6 STAT1 STAT3 STAT5A STAT5B STAT6 TET2 TGFB1 UBR5 VEGFC	10592 1108 1436 1499 1591 1616 1938 2355 310 3146 3169 324 4015 4255 4313 4318 4615 4843 5125 51366 5198 5290 54790 581 5879 6429 6430 6431 6714 6772 6774 6776 6777 6778 7040 7403 7424 771 8503 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080569	congenital disorder of glycosylation Ir Aliases: congenital disorder of glycosylation 1r	DDOST	1650	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type Aliases: SED Stanescu type SEDSTN	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060743	methylmalonic acidemia cblB type Aliases: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	MMAB	326625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050632	oculocutaneous albinism	DCT OCA2 SLC45A2 TYR TYRP1	1638 4948 51151 7299 7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050744	anaplastic large cell lymphoma	IRF4 JUNB	3662 3726	Homo sapiens (human)	Alliance of Genome Resources
DOID:11457	brain compression	CFL1	1072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111399	congenital dyserythropoietic anemia type III Aliases: CDA III CDA type 3 CDA type III CDAN3 Congenital dyserythropoietic anaemia type 3 Congenital dyserythropoietic anemia type 3 anaemia with multinucleated erythroblasts anemia with multinucleated erythroblasts congenital dyserythropoietic anaemia type III hereditary benign erythroreticulosis	KIF23 SEC23B	10483 9493	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6271	gastric cardia adenocarcinoma Aliases: adenocarcinoma of Cardia of stomach	ALB XRCC1	213 7515	Homo sapiens (human)	Alliance of Genome Resources
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	GALC IL13 TNF	2581 3596 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111974	immunodeficiency 59 Aliases: IMD59 granulocytopenia with immunoglobin abnormality immunodeficiency 59 and hypoglycemia	HYOU1	10525	Homo sapiens (human)	Alliance of Genome Resources

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